A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [ http://purl.obolibrary.org/obo/ECO_0007638 url:https://en.wikipedia.org/wiki/3C_syndrome ]
Synonyms: CCC dysplasia craniocerebellocardiac dysplasia
Term information
- UMLS_CUI:C0796137
- MESH:C535313
- SNOMEDCT_US_2023_03_01:718556007
- MIM:PS220210
- ORDO:7
DO_rare_slim